Varaico: Literature-Extracted Genetic Variants

Gene:ASCL1

ASCL1

116 papers

RefSeq Summary

This gene encodes a member of the basic helix-loop-helix (BHLH) family of transcription factors. The protein activates transcription by binding to the E box (5'-CANNTG-3'). Dimerization with other BHL...

Pfam Domains

HLHaa 119–171UCSCHelix-loop-helix DNA-binding domain

Gene Aliases

HGNC Name

achaete-scute family bHLH transcription factor 1

HGNC Alias Symbols

ASH1; HASH1; bHLHa46

Papers
RefSeq ID
Protein change
DNA change
1–12 of 80 variants
10 papers
NM_004316.4
p.A50ins1
c.149_150insGCA
8 papers
NM_004316.4
p.A50_Q51del1
c.150_152delGCA
6 papers
NM_004316.4
p.A149_A150insGCA
c.445_449ins9
5 papers
NM_004316.4
p.A50ins3
c.149_150ins9
3 papers
NM_004316.4
p.Q17delFs
c.50_51delAG
3 papers
NM_004316.4
p.P18T
c.52C>A
3 papers
NM_004316.4
p.A41S
c.121G>T
3 papers
NM_004316.4
p.A50_Q51del2
c.148_152del6
3 papers
NM_004316.4
p.E127K
c.379G>A
3 papers
NM_004316.4
p.A149_A150ins9
c.445_449ins27
3 papers
NM_004316.4
p.A150_K152del3
c.448_455del9
2 papers
NM_004316.4
p.A38_A43del0
c.114_128del15
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."